Variant: rs137868995 

    present in Gene: MYMK
    present in Chromosome: 9
    Position on Chromosome: 133519002
    Alleles of this Variant: G/T

rs137868995 in MYMK gene and Myopathy, congenital nonprogressive with Moebius and Robin sequences PMID 28681861 2017 A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

PMID 30065953 2018 Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.